A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678369



Internal ID15068335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30485102..30673001hg38UCSC Ensembl
Innerchr17:28812120..29000019hg19UCSC Ensembl
Innerchr17:25836246..26024145hg18UCSC Ensembl
Innerchr17:25836246..26024145hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38187900
hg19187900
hg18187900
hg17187900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515870
Supporting Variants
Samples
Known GenesGOSR1, LRRC37BP1, SH3GL1P2, TBC1D29
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678369
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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