Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5381795

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:585,776

Description:GRCh37/hg19 17p11.2(chr17:17104302-17690077)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: 1833 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):17,200,988-17,786,763

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv5381795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	17,200,988	17,786,763
nsv5381795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	17,104,302	17,690,077

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16866490	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV001310289.1, VCV001012371.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv16866490	Remapped	Perfect	NC_000017.11:g.(17 200988_?)_(?_17786 763)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	17,200,988	17,786,763
nssv16866490	Submitted genomic		NC_000017.10:g.(17 104302_?)_(?_17690 077)dup	GRCh37 (hg19)		NC_000017.10	Chr17	17,104,302	17,690,077

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
nssv16866490	GRCh37: NC_000017.10:g.(17104302_?)_(?_17690077)dup	copy number gain	unknown	See cases	Uncertain significance	ClinVar	RCV001310289.1, VCV001012371.1	3

No genotype data were submitted for this variant

You are here: NCBI