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dbVar

Database of genomic structural variation

nsv3921657

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:161,713

Description:NCBI36/hg18 6p21.33-21.32(chr6:31794014-31919064)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: 723 SVs from 68 studies. See in: genome view

Remapped(Score: Perfect):31,697,461-31,859,157

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3921657	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	31,697,461	31,718,258	31,843,308	31,859,157
nsv3921657	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_7	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	-	3,055,670	3,160,384	3,160,384
nsv3921657	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_5	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,039,332	3,039,332	3,148,913	-
nsv3921657	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_3	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	2,945,223	2,945,223	3,106,935	3,106,935
nsv3921657	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_167244.2	Chr6\|NT_16 7244.2	-	3,087,568	3,191,773	3,191,773
nsv3921657	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	31,665,238	31,686,035	31,811,085	31,826,934
nsv3921657	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_7	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	-	3,054,967	3,159,682	3,159,682
nsv3921657	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_1	Second Pass	NT_167244.1	Chr6\|NT_16 7244.1	-	3,037,483	3,141,689	3,141,689
nsv3921657	Remapped	Good	GRCh37.p13	ALT_REF_LOCI_3	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	2,950,808	2,950,808	3,112,520	3,112,520
nsv3921657	Remapped	Pass	GRCh37.p13	ALT_REF_LOCI_5	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,044,917	3,044,917	3,154,498	-
nsv3921657	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	31,773,217	31,794,014	31,919,064	31,934,913

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128939	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000452789.2, VCV000401463.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128939	Remapped	Pass	NT_167247.2:g.(303 9332_3039332)_(314 8913_?)dup	GRCh38.p12	Second Pass	NT_167247.2	Chr6\|NT_16 7247.2	3,039,332	3,039,332	3,148,913	-
nssv15128939	Remapped	Pass	NT_167249.2:g.(?_3 055670)_(3160384_3 160384)dup	GRCh38.p12	Second Pass	NT_167249.2	Chr6\|NT_16 7249.2	-	3,055,670	3,160,384	3,160,384
nssv15128939	Remapped	Good	NT_167245.2:g.(294 5223_2945223)_(310 6935_3106935)dup	GRCh38.p12	Second Pass	NT_167245.2	Chr6\|NT_16 7245.2	2,945,223	2,945,223	3,106,935	3,106,935
nssv15128939	Remapped	Pass	NT_167244.2:g.(?_3 087568)_(3191773_3 191773)dup	GRCh38.p12	Second Pass	NT_167244.2	Chr6\|NT_16 7244.2	-	3,087,568	3,191,773	3,191,773
nssv15128939	Remapped	Perfect	NC_000006.12:g.(31 697461_31718258)_( 31843308_31859157) dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	31,697,461	31,718,258	31,843,308	31,859,157
nssv15128939	Remapped	Good	NT_167245.1:g.(295 0808_2950808)_(311 2520_3112520)dup	GRCh37.p13	Second Pass	NT_167245.1	Chr6\|NT_16 7245.1	2,950,808	2,950,808	3,112,520	3,112,520
nssv15128939	Remapped	Pass	NT_167244.1:g.(?_3 037483)_(3141689_3 141689)dup	GRCh37.p13	Second Pass	NT_167244.1	Chr6\|NT_16 7244.1	-	3,037,483	3,141,689	3,141,689
nssv15128939	Remapped	Pass	NT_167247.1:g.(304 4917_3044917)_(315 4498_?)dup	GRCh37.p13	Second Pass	NT_167247.1	Chr6\|NT_16 7247.1	3,044,917	3,044,917	3,154,498	-
nssv15128939	Remapped	Pass	NT_167249.1:g.(?_3 054967)_(3159682_3 159682)dup	GRCh37.p13	Second Pass	NT_167249.1	Chr6\|NT_16 7249.1	-	3,054,967	3,159,682	3,159,682
nssv15128939	Remapped	Perfect	NC_000006.11:g.(31 665238_31686035)_( 31811085_31826934) dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	31,665,238	31,686,035	31,811,085	31,826,934
nssv15128939	Submitted genomic		NC_000006.10:g.(31 773217_31794014)_( 31919064_31934913) dup	NCBI36 (hg18)		NC_000006.10	Chr6	31,773,217	31,794,014	31,919,064	31,934,913

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
nssv15128939	NCBI36: NC_000006.10:g.(31773217_31794014)_(31919064_31934913)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000452789.2, VCV000401463.2	3

No genotype data were submitted for this variant

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