A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3562554



Internal ID18860835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41055656..41080200hg38UCSC Ensembl
Innerchr17:39211908..39236452hg19UCSC Ensembl
Innerchr17:36465434..36489978hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3824545
hg1924545
hg1824545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060512
Supporting Variants
Samples
Known GenesKRTAP2-3, KRTAP2-4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3562554
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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