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dbVar

Database of genomic structural variation

nsv6637375

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,421,328

Description:GRCh37/hg19 15q13.1-13.2(chr15:28928730-30386398)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: 3824 SVs from 114 studies. See in: genome view

Remapped(Score: Good):28,683,584-30,094,195

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637375	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	28,683,584	30,094,195
nsv6637375	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	959,374	2,379,399
nsv6637375	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	845,588	2,266,915
nsv6637375	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	28,928,730	30,386,398

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329687	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002472909.1, VCV001808103.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329687	Remapped	Good	NT_187660.1:g.(?_9 59374)_(2379399_?) del	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	959,374	2,379,399
nssv18329687	Remapped	Good	NW_011332701.1:g.( ?_845588)_(2266915 _?)del	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	845,588	2,266,915
nssv18329687	Remapped	Good	NC_000015.10:g.(?_ 28683584)_(3009419 5_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	28,683,584	30,094,195
nssv18329687	Submitted genomic		NC_000015.9:g.(?_2 8928730)_(30386398 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	28,928,730	30,386,398

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
nssv18329687	GRCh37: NC_000015.9:g.(?_28928730)_(30386398_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV002472909.1, VCV001808103.1	1

No genotype data were submitted for this variant

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