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dbVar

Database of genomic structural variation

nsv3914847

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:24,076,613

Description:NCBI36/hg18 1q42.12-44(chr1:223134347-247179289)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: 72507 SVs from 139 studies. See in: genome view

Remapped(Score: Good):224,862,285-248,938,897

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
nsv3914847	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	224,862,285	224,862,285	248,938,897	248,938,897
nsv3914847	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	225,049,987	225,049,987	249,233,096	249,233,096
nsv3914847	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	223,116,610	223,134,347	247,179,289	247,199,719

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126459	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451057.2, VCV000401983.2	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
nssv15126459	Remapped	Good	NC_000001.11:g.(22 4862285_224862285) _(248938897_248938 897)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	224,862,285	224,862,285	248,938,897	248,938,897
nssv15126459	Remapped	Good	NC_000001.10:g.(22 5049987_225049987) _(249233096_249233 096)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	225,049,987	225,049,987	249,233,096	249,233,096
nssv15126459	Submitted genomic		NC_000001.9:g.(223 116610_223134347)_ (247179289_2471997 19)dup	NCBI36 (hg18)		NC_000001.9	Chr1	223,116,610	223,134,347	247,179,289	247,199,719

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
nssv15126459	NCBI36: NC_000001.9:g.(223116610_223134347)_(247179289_247199719)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000451057.2, VCV000401983.2	3

No genotype data were submitted for this variant

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