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dbVar

Database of genomic structural variation

nsv3917614

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,508,099

Description:NCBI36/hg18 1p31.3(chr1:62550167-64011765)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: 3715 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):62,287,971-63,796,069

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3917614	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	62,287,971	62,287,971	63,796,069	63,796,069
nsv3917614	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	62,753,643	62,777,579	64,239,177	64,261,740
nsv3917614	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	62,526,231	62,550,167	64,011,765	64,034,328

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126495	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000451189.2, VCV000401771.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126495	Remapped	Perfect	NC_000001.11:g.(62 287971_62287971)_( 63796069_63796069) dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	62,287,971	62,287,971	63,796,069	63,796,069
nssv15126495	Remapped	Perfect	NC_000001.10:g.(62 753643_62777579)_( 64239177_64261740) dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	62,753,643	62,777,579	64,239,177	64,261,740
nssv15126495	Submitted genomic		NC_000001.9:g.(625 26231_62550167)_(6 4011765_64034328)d up	NCBI36 (hg18)		NC_000001.9	Chr1	62,526,231	62,550,167	64,011,765	64,034,328

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
nssv15126495	NCBI36: NC_000001.9:g.(62526231_62550167)_(64011765_64034328)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000451189.2, VCV000401771.2	3

No genotype data were submitted for this variant

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