A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576183



Internal ID16016906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:81991355..82086850hg38UCSC Ensembl
Innerchr17:79949231..80044726hg19UCSC Ensembl
Innerchr17:77542520..77638015hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3895496
hg1995496
hg1895496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150007, nssv1150006
SamplesHGDP00546, 1780862275_A
Known GenesASPSCR1, DCXR, DUS1L, FASN, GPS1, LRRC45, RAC3, RFNG, STRA13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576183
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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