A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1149807



Internal ID15532663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74889500..74982818hg38UCSC Ensembl
Innerchr17:72885623..72978913hg19UCSC Ensembl
Innerchr17:70397218..70490508hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3893319
hg1993291
hg1893291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576026
Supporting Variants
SamplesHGDP01349
Known GenesFADS6, HID1, OTOP2, OTOP3, USH1G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1149807
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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