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dbVar

Database of genomic structural variation

nsv4456221

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:82,846

Description:GRCh37/hg19 16p12.1(chr16:27599138-27681983)x1 AND not provided

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: 220 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):27,587,817-27,670,662

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456221	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	27,587,817	27,670,662
nsv4456221	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	27,599,138	27,681,983

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774684	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846239.2, VCV000685531.2	1
nssv16208459	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001006788.1, VCV000815814.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774684	Remapped	Perfect	NC_000016.10:g.(?_ 27587817)_(2767066 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	27,587,817	27,670,662
nssv16208459	Remapped	Perfect	NC_000016.10:g.(?_ 27587817)_(2767066 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	27,587,817	27,670,662
nssv15774684	Submitted genomic		NC_000016.9:g.(?_2 7599138)_(27681983 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	27,599,138	27,681,983
nssv16208459	Submitted genomic		NC_000016.9:g.(?_2 7599138)_(27681983 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	27,599,138	27,681,983

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
nssv15774684	GRCh37: NC_000016.9:g.(?_27599138)_(27681983_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000846239.2, VCV000685531.2	1
nssv16208459	GRCh37: NC_000016.9:g.(?_27599138)_(27681983_?)del	copy number loss	germline	not provided	Uncertain significance	ClinVar	RCV001006788.1, VCV000815814.1	1

No genotype data were submitted for this variant

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