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

dbVar

Database of genomic structural variation

nsv3871472

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, NCBI36

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:54,098,523

Description:
See descriptions for individual calls in download files

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: 16335 SVs from 69 studies. See in: genome view

Remapped(Score: Good):2,786,811-56,885,333

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3871472	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	2,786,811	56,885,333
nsv3871472	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	2,654,852	59,031,480
nsv3871472	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000024.8	ChrY	2,714,852	57,440,868

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15131841	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000133672.4, VCV000144190.2	3
nssv15133280	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000133673.4, VCV000144191.2	0
nssv15139728	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000148271.2, VCV000161065.1	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15131841	Remapped	Good	NC_000024.10:g.(?_ 2786811)_(56885333 _?)dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	2,786,811	56,885,333
nssv15133280	Remapped	Good	NC_000024.10:g.(?_ 2786811)_(56885333 _?)del	GRCh38.p12	First Pass	NC_000024.10	ChrY	2,786,811	56,885,333
nssv15139728	Remapped	Good	NC_000024.10:g.(?_ 2786811)_(56885333 _?)dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	2,786,811	56,885,333
nssv15131841	Submitted genomic		NC_000024.9:g.(?_2 654852)_(59031480_ ?)dup	GRCh37 (hg19)		NC_000024.9	ChrY	2,654,852	59,031,480
nssv15133280	Submitted genomic		NC_000024.9:g.(?_2 654852)_(59031480_ ?)del	GRCh37 (hg19)		NC_000024.9	ChrY	2,654,852	59,031,480
nssv15139728	Submitted genomic		NC_000024.9:g.(?_2 654852)_(59031480_ ?)dup	GRCh37 (hg19)		NC_000024.9	ChrY	2,654,852	59,031,480
nssv15131841	Submitted genomic		NC_000024.8:g.(?_2 714852)_(57440868_ ?)dup	NCBI36 (hg18)		NC_000024.8	ChrY	2,714,852	57,440,868
nssv15133280	Submitted genomic		NC_000024.8:g.(?_2 714852)_(57440868_ ?)del	NCBI36 (hg18)		NC_000024.8	ChrY	2,714,852	57,440,868
nssv15139728	Submitted genomic		NC_000024.8:g.(?_2 714852)_(57440868_ ?)dup	NCBI36 (hg18)		NC_000024.8	ChrY	2,714,852	57,440,868

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
nssv15131841	GRCh37: NC_000024.9:g.(?_2654852)_(59031480_?)dup, NCBI36: NC_000024.8:g.(?_2714852)_(57440868_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000133672.4, VCV000144190.2	3
nssv15133280	GRCh37: NC_000024.9:g.(?_2654852)_(59031480_?)del, NCBI36: NC_000024.8:g.(?_2714852)_(57440868_?)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000133673.4, VCV000144191.2	0
nssv15139728	GRCh37: NC_000024.9:g.(?_2654852)_(59031480_?)dup, NCBI36: NC_000024.8:g.(?_2714852)_(57440868_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000148271.2, VCV000161065.1	2

No genotype data were submitted for this variant

You are here: NCBI