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dbVar

Database of genomic structural variation

nsv6314350

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(8;9)(q13;p22)dn AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 77 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):59,982,704-59,982,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314350	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	59,982,704	59,982,704	+
nsv6314350	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	59,982,708	59,982,708	-
nsv6314350	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	21,845,449	21,845,449	-
nsv6314350	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	21,845,457	21,845,457	+
nsv6314350	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	60,895,263	60,895,263	+
nsv6314350	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	60,895,267	60,895,267	-
nsv6314350	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	21,845,448	21,845,448	-
nsv6314350	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	21,845,456	21,845,456	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975840	interchromosomal translocation	Multiple	Multiple	Avascular necrosis of the capital femoral epiphysis; Hearing Loss, Sensorineural; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Juvenile rheumatoid arthritis; LEGG-CALVE-PERTHES DISEASE; LCPD; Legg-Calve-Perthes disease; Legg-CalvΘ-Perthes disease; Sensorineural hearing impairment; Sensorineural hearing loss; Telangiectasia of the skin; Telangiectasia of the skin	Pathogenic	ClinVar	RCV000258722.2, VCV000267809.1
nssv17975841	interchromosomal translocation	Multiple	Multiple	Avascular necrosis of the capital femoral epiphysis; Hearing Loss, Sensorineural; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Juvenile rheumatoid arthritis; LEGG-CALVE-PERTHES DISEASE; LCPD; Legg-Calve-Perthes disease; Legg-CalvΘ-Perthes disease; Sensorineural hearing impairment; Sensorineural hearing loss; Telangiectasia of the skin; Telangiectasia of the skin	Pathogenic	ClinVar	RCV000258722.2, VCV000267809.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975840	Remapped	Perfect	GRCh38.p12	First Pass	NC_000008.11	Chr8	59,982,704	59,982,704	+
nssv17975841	Remapped	Perfect	GRCh38.p12	First Pass	NC_000008.11	Chr8	59,982,708	59,982,708	-
nssv17975840	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	21,845,449	21,845,449	-
nssv17975841	Remapped	Perfect	GRCh38.p12	First Pass	NC_000009.12	Chr9	21,845,457	21,845,457	+
nssv17975840	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	60,895,263	60,895,263	+
nssv17975841	Submitted genomic		GRCh37 (hg19)		NC_000008.10	Chr8	60,895,267	60,895,267	-
nssv17975840	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	21,845,448	21,845,448	-
nssv17975841	Submitted genomic		GRCh37 (hg19)		NC_000009.11	Chr9	21,845,456	21,845,456	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975840	interchromosomal translocation	de novo	Avascular necrosis of the capital femoral epiphysis; Hearing Loss, Sensorineural; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Juvenile rheumatoid arthritis; LEGG-CALVE-PERTHES DISEASE; LCPD; Legg-Calve-Perthes disease; Legg-CalvΘ-Perthes disease; Sensorineural hearing impairment; Sensorineural hearing loss; Telangiectasia of the skin; Telangiectasia of the skin	Pathogenic	ClinVar	RCV000258722.2, VCV000267809.1
nssv17975841	interchromosomal translocation	de novo	Avascular necrosis of the capital femoral epiphysis; Hearing Loss, Sensorineural; Incomplete partition of the cochlea type II; Incomplete partition of the cochlea type II; Juvenile rheumatoid arthritis; Juvenile rheumatoid arthritis; LEGG-CALVE-PERTHES DISEASE; LCPD; Legg-Calve-Perthes disease; Legg-CalvΘ-Perthes disease; Sensorineural hearing impairment; Sensorineural hearing loss; Telangiectasia of the skin; Telangiectasia of the skin	Pathogenic	ClinVar	RCV000258722.2, VCV000267809.1

No genotype data were submitted for this variant

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