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dbVar

Database of genomic structural variation

nsv3913577

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:7,412,140

Description:NCBI36/hg18 11q22.3-23.2(chr11:105999194-113367377)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: 17503 SVs from 122 studies. See in: genome view

Remapped(Score: Perfect):106,596,868-114,009,007

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
nsv3913577	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	106,596,868	106,596,868	114,009,007	114,009,007
nsv3913577	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	106,467,595	106,493,984	113,862,167	113,879,729
nsv3913577	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	105,972,805	105,999,194	113,367,377	113,384,939

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127200	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450488.2, VCV000398811.2	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
nssv15127200	Remapped	Perfect	NC_000011.10:g.(10 6596868_106596868) _(114009007_114009 007)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	106,596,868	106,596,868	114,009,007	114,009,007
nssv15127200	Remapped	Perfect	NC_000011.9:g.(106 467595_106493984)_ (113862167_1138797 29)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	106,467,595	106,493,984	113,862,167	113,879,729
nssv15127200	Submitted genomic		NC_000011.8:g.(105 972805_105999194)_ (113367377_1133849 39)dup	NCBI36 (hg18)		NC_000011.8	Chr11	105,972,805	105,999,194	113,367,377	113,384,939

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
nssv15127200	NCBI36: NC_000011.8:g.(105972805_105999194)_(113367377_113384939)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000450488.2, VCV000398811.2	3

No genotype data were submitted for this variant

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