A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705217



Internal ID15095183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21556327..21611882hg38UCSC Ensembl
Innerchr1:21882820..21938375hg19UCSC Ensembl
Innerchr1:21755407..21810962hg18UCSC Ensembl
Innerchr1:21628126..21683681hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3855556
hg1955556
hg1855556
hg1755556
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517096
Supporting Variants
Samples
Known GenesALPL, RAP1GAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705217
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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