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dbVar

Database of genomic structural variation

nsv3916025

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:32,951

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: 243 SVs from 58 studies. See in: genome view

Submitted genomic57,052,810-57,085,760

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3916025	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000006.12	Chr6	57,052,810	57,085,760
nsv3916025	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000006.11	Chr6	56,917,608	56,950,558

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15119445	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000134308.3, VCV000144904.1	4
nssv15120065	copy number gain	Multiple	Multiple	See cases	Benign/Likely benign	ClinVar	RCV000134307.4, VCV000144903.1	3
nssv15120066	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000134309.3, VCV000144905.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15119445	Submitted genomic	NC_000006.12:g.(?_ 57052810)_(5708576 0_?)dup	GRCh38 (hg38)	NC_000006.12	Chr6	57,052,810	57,085,760
nssv15120065	Submitted genomic	NC_000006.12:g.(?_ 57052810)_(5708576 0_?)dup	GRCh38 (hg38)	NC_000006.12	Chr6	57,052,810	57,085,760
nssv15120066	Submitted genomic	NC_000006.12:g.(?_ 57052810)_(5708576 0_?)del	GRCh38 (hg38)	NC_000006.12	Chr6	57,052,810	57,085,760
nssv15119445	Submitted genomic	NC_000006.11:g.(?_ 56917608)_(5695055 8_?)dup	GRCh37 (hg19)	NC_000006.11	Chr6	56,917,608	56,950,558
nssv15120065	Submitted genomic	NC_000006.11:g.(?_ 56917608)_(5695055 8_?)dup	GRCh37 (hg19)	NC_000006.11	Chr6	56,917,608	56,950,558
nssv15120066	Submitted genomic	NC_000006.11:g.(?_ 56917608)_(5695055 8_?)del	GRCh37 (hg19)	NC_000006.11	Chr6	56,917,608	56,950,558
nssv15120065	Submitted genomic	NC_000006.10:g.(?_ 57025567)_(5705851 7_?)dup	NCBI36 (hg18)	NC_000006.10	Chr6	57,025,567	57,058,517

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
nssv15119445	GRCh37: NC_000006.11:g.(?_56917608)_(56950558_?)dup, GRCh38: NC_000006.12:g.(?_57052810)_(57085760_?)dup	copy number gain	not provided	See cases	Likely benign	ClinVar	RCV000134308.3, VCV000144904.1	4
nssv15120065	GRCh37: NC_000006.11:g.(?_56917608)_(56950558_?)dup, GRCh38: NC_000006.12:g.(?_57052810)_(57085760_?)dup, NCBI36: NC_000006.10:g.(?_57025567)_(57058517_?)dup	copy number gain	not provided	See cases	Benign/Likely benign	ClinVar	RCV000134307.4, VCV000144903.1	3
nssv15120066	GRCh37: NC_000006.11:g.(?_56917608)_(56950558_?)del, GRCh38: NC_000006.12:g.(?_57052810)_(57085760_?)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000134309.3, VCV000144905.1	1

No genotype data were submitted for this variant

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