A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704290



Internal ID15094256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43446919..43451738hg38UCSC Ensembl
Innerchr1:43912590..43917409hg19UCSC Ensembl
Innerchr1:43685177..43689996hg18UCSC Ensembl
Innerchr1:43581683..43586502hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384820
hg194820
hg184820
hg174820
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527798
Supporting Variants
Samples
Known GenesHYI, MIR6735, SZT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704290
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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