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dbVar

Database of genomic structural variation

nsv3874583

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,213,429

Description:GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 AND See cases

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: 6369 SVs from 118 studies. See in: genome view

Remapped(Score: Pass):146,349,909-149,563,337

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3874583	Remapped	Pass	GRCh38.p12	Primary Assembly	Second Pass	NC_000001.11	Chr1	146,349,909	149,563,337
nsv3874583	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	145,415,190	148,809,863
nsv3874583	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	144,126,547	147,076,487

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15137741	copy number gain	Multiple	Multiple	See cases	Pathogenic/Likely pathogenic	ClinVar	RCV000140695.5, VCV000152024.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15137741	Remapped	Pass	NC_000001.11:g.(?_ 146349909)_(149563 337_?)dup	GRCh38.p12	Second Pass	NC_000001.11	Chr1	146,349,909	149,563,337
nssv15137741	Submitted genomic		NC_000001.10:g.(?_ 145415190)_(148809 863_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	145,415,190	148,809,863
nssv15137741	Submitted genomic		NC_000001.9:g.(?_1 44126547)_(1470764 87_?)dup	NCBI36 (hg18)		NC_000001.9	Chr1	144,126,547	147,076,487

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15137741	GRCh37: NC_000001.10:g.(?_145415190)_(148809863_?)dup, NCBI36: NC_000001.9:g.(?_144126547)_(147076487_?)dup	copy number gain	not provided	See cases	Pathogenic/Likely pathogenic	ClinVar	RCV000140695.5, VCV000152024.2	3

No genotype data were submitted for this variant

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