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dbVar

Database of genomic structural variation

nsv3920144

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:92,980

Description:NCBI36/hg18 16p13.3(chr16:2127379-2203692)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: 596 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):2,133,684-2,226,663

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
nsv3920144	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	2,133,684	2,137,377	2,213,690	2,226,663
nsv3920144	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	2,183,685	2,187,378	2,263,691	2,276,664
nsv3920144	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	2,123,686	2,127,379	2,203,692	2,216,665

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127115	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450264.2, VCV000401745.2	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
nssv15127115	Remapped	Perfect	NC_000016.10:g.(21 33684_2137377)_(22 13690_2226663)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	2,133,684	2,137,377	2,213,690	2,226,663
nssv15127115	Remapped	Perfect	NC_000016.9:g.(218 3685_2187378)_(226 3691_2276664)del	GRCh37.p13	First Pass	NC_000016.9	Chr16	2,183,685	2,187,378	2,263,691	2,276,664
nssv15127115	Submitted genomic		NC_000016.8:g.(212 3686_2127379)_(220 3692_2216665)del	NCBI36 (hg18)		NC_000016.8	Chr16	2,123,686	2,127,379	2,203,692	2,216,665

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
nssv15127115	NCBI36: NC_000016.8:g.(2123686_2127379)_(2203692_2216665)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000450264.2, VCV000401745.2	1

No genotype data were submitted for this variant

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