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dbVar

Database of genomic structural variation

nsv3906711

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:853,790

Description:GRCh37/hg19 17q22(chr17:55916829-56770618)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: 2204 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):57,839,468-58,693,257

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3906711	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	57,839,468	58,693,257
nsv3906711	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	55,916,829	56,770,618

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15149113	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000239996.1, VCV000253345.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15149113	Remapped	Perfect	NC_000017.11:g.(?_ 57839468)_(5869325 7_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	57,839,468	58,693,257
nssv15149113	Submitted genomic		NC_000017.10:g.(?_ 55916829)_(5677061 8_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	55,916,829	56,770,618

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
nssv15149113	GRCh37: NC_000017.10:g.(?_55916829)_(56770618_?)del	copy number loss	unknown	See cases	Likely pathogenic	ClinVar	RCV000239996.1, VCV000253345.1	1

No genotype data were submitted for this variant

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