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dbVar

Database of genomic structural variation

nsv471392

Organism: Homo sapiens

Study:nstd31 (Alkan et al. 2009)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:NCBI35 (hg17)

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:17,673

Description:LGALS9B
Publication(s):Alkan et al. 2009

Links to Other Resources

Overlapping Genes

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: 378 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):20,449,863-20,467,535

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv471392	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	20,449,863	20,467,535
nsv471392	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	20,353,176	20,370,848
nsv471392	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000017.9	Chr17	20,293,768	20,311,440

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv548150	copy number gain	JDW	Sequencing	Read depth	4	198
nssv548151	copy number gain	NA18507	Sequencing	Read depth	6	208
nssv548152	copy number gain	YH	Sequencing	Read depth	4	201

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv548150	Remapped	Perfect	NC_000017.11:g.(20 449863_?)_(?_20467 535)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	20,449,863	20,467,535
nssv548151	Remapped	Perfect	NC_000017.11:g.(20 449863_?)_(?_20467 535)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	20,449,863	20,467,535
nssv548152	Remapped	Perfect	NC_000017.11:g.(20 449863_?)_(?_20467 535)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	20,449,863	20,467,535
nssv548150	Remapped	Perfect	NC_000017.10:g.(20 353176_?)_(?_20370 848)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	20,353,176	20,370,848
nssv548151	Remapped	Perfect	NC_000017.10:g.(20 353176_?)_(?_20370 848)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	20,353,176	20,370,848
nssv548152	Remapped	Perfect	NC_000017.10:g.(20 353176_?)_(?_20370 848)dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	20,353,176	20,370,848
nssv548150	Submitted genomic		NC_000017.9:g.(202 93768_?)_(?_203114 40)dup	NCBI35 (hg17)		NC_000017.9	Chr17	20,293,768	20,311,440
nssv548151	Submitted genomic		NC_000017.9:g.(202 93768_?)_(?_203114 40)dup	NCBI35 (hg17)		NC_000017.9	Chr17	20,293,768	20,311,440
nssv548152	Submitted genomic		NC_000017.9:g.(202 93768_?)_(?_203114 40)dup	NCBI35 (hg17)		NC_000017.9	Chr17	20,293,768	20,311,440

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
nssv548150	4	JDW	Oligo aCGH	Probe signal intensity	Pass
nssv548151	4	NA18507	Oligo aCGH	Probe signal intensity	Pass
nssv548152	4	YH	Oligo aCGH	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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