A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702836



Internal ID15092802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:29582334..29584539hg38UCSC Ensembl
Innerchr17:27909352..27911557hg19UCSC Ensembl
Innerchr17:24933478..24935683hg18UCSC Ensembl
Innerchr17:24933478..24935683hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382206
hg192206
hg182206
hg172206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526524
Supporting Variants
Samples
Known GenesGIT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702836
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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