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dbVar

Database of genomic structural variation

nsv3905673

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:2,385,651

Description:GRCh37/hg19 14q32.12-32.13(chr14:93498930-96059698)x3 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: 6212 SVs from 98 studies. See in: genome view

Remapped(Score: Pass):93,207,711-95,593,361

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905673	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	93,207,711	95,593,361
nsv3905673	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187601.1	Chr14\|NT_1 87601.1	147,147	1,475,710
nsv3905673	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	93,498,930	96,059,698

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15142138	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511246.2, VCV000441640.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15142138	Remapped	Pass	NT_187601.1:g.(?_1 47147)_(1475710_?) dup	GRCh38.p12	First Pass	NT_187601.1	Chr14\|NT_1 87601.1	147,147	1,475,710
nssv15142138	Remapped	Pass	NC_000014.9:g.(?_9 3207711)_(95593361 _?)dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	93,207,711	95,593,361
nssv15142138	Submitted genomic		NC_000014.8:g.(?_9 3498930)_(96059698 _?)dup	GRCh37 (hg19)		NC_000014.8	Chr14	93,498,930	96,059,698

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
nssv15142138	GRCh37: NC_000014.8:g.(?_93498930)_(96059698_?)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000511246.2, VCV000441640.2	3

No genotype data were submitted for this variant

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