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dbVar

Database of genomic structural variation

nsv3922179

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:633,522

Description:NCBI36/hg18 1q32.1(chr1:199537522-200118996)x1 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: 1313 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):201,273,943-201,907,464

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
nsv3922179	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	201,273,943	201,301,771	201,883,245	201,907,464
nsv3922179	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	201,243,071	201,270,899	201,852,373	201,876,592
nsv3922179	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	199,509,694	199,537,522	200,118,996	200,143,215

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125646	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000451329.2, VCV000399650.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125646	Remapped	Perfect	NC_000001.11:g.(20 1273943_201301771) _(201883245_201907 464)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	201,273,943	201,301,771	201,883,245	201,907,464
nssv15125646	Remapped	Perfect	NC_000001.10:g.(20 1243071_201270899) _(201852373_201876 592)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	201,243,071	201,270,899	201,852,373	201,876,592
nssv15125646	Submitted genomic		NC_000001.9:g.(199 509694_199537522)_ (200118996_2001432 15)del	NCBI36 (hg18)		NC_000001.9	Chr1	199,509,694	199,537,522	200,118,996	200,143,215

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
nssv15125646	NCBI36: NC_000001.9:g.(199509694_199537522)_(200118996_200143215)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000451329.2, VCV000399650.2	1

No genotype data were submitted for this variant

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