A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv666397



Internal ID15403049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73679692..73686892hg38UCSC Ensembl
Innerchr2:73906819..73914019hg19UCSC Ensembl
Innerchr2:73760327..73767527hg18UCSC Ensembl
Innerchr2:73818474..73825674hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg387201
hg197201
hg187201
hg177201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515605
Supporting Variants
Samples
Known GenesALMS1P
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv666397
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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