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dbVar

Database of genomic structural variation

nsv3921838

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:80,598

Description:
NCBI36/hg18 2p21(chr2:44348655-44398625)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: 621 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):44,238,801-44,319,398

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
nsv3921838	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	44,238,801	44,268,012	44,317,982	44,319,398
nsv3921838	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	44,465,940	44,495,151	44,545,121	44,546,537
nsv3921838	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	44,319,444	44,348,655	44,398,625	44,400,041

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15129718	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000453270.2, VCV000398547.2	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
nssv15129718	Remapped	Perfect	NC_000002.12:g.(44 238801_44268012)_( 44317982_44319398) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	44,238,801	44,268,012	44,317,982	44,319,398
nssv15129718	Remapped	Perfect	NC_000002.11:g.(44 465940_44495151)_( 44545121_44546537) del	GRCh37.p13	First Pass	NC_000002.11	Chr2	44,465,940	44,495,151	44,545,121	44,546,537
nssv15129718	Submitted genomic		NC_000002.10:g.(44 319444_44348655)_( 44398625_44400041) del	NCBI36 (hg18)		NC_000002.10	Chr2	44,319,444	44,348,655	44,398,625	44,400,041

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
nssv15129718	NCBI36: NC_000002.10:g.(44319444_44348655)_(44398625_44400041)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000453270.2, VCV000398547.2	1

No genotype data were submitted for this variant

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