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dbVar

Database of genomic structural variation

nsv3915827

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:442,212

Description:NCBI36/hg18 11q13.3-13.4(chr11:70530702-70972913)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: 1371 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):71,142,008-71,584,219

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3915827	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	71,142,008	71,584,219
nsv3915827	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	70,853,054	71,295,265
nsv3915827	Remapped	Pass	GRCh37.p13	PATCHES	Second Pass	NW_004070871.1	Chr11\|NW_0 04070871.1	636,221	872,115
nsv3915827	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000011.8	Chr11	70,530,702	70,972,913

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126198	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000449823.2, VCV000401558.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15126198	Remapped	Perfect	NC_000011.10:g.(?_ 71142008)_(7158421 9_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	71,142,008	71,584,219
nssv15126198	Remapped	Pass	NW_004070871.1:g.( ?_636221)_(872115_ ?)dup	GRCh37.p13	Second Pass	NW_004070871.1	Chr11\|NW_0 04070871.1	636,221	872,115
nssv15126198	Remapped	Perfect	NC_000011.9:g.(?_7 0853054)_(71295265 _?)dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	70,853,054	71,295,265
nssv15126198	Submitted genomic		NC_000011.8:g.(?_7 0530702)_(70972913 _?)dup	NCBI36 (hg18)		NC_000011.8	Chr11	70,530,702	70,972,913

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
nssv15126198	NCBI36: NC_000011.8:g.(?_70530702)_(70972913_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000449823.2, VCV000401558.2	3

No genotype data were submitted for this variant

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