A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055421



Internal ID19144640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46186703hg38UCSC Ensembl
Innerchr17:44165803..44264069hg19UCSC Ensembl
Innerchr17:41521621..41619846hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3898267
hg1998267
hg1898226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546254, nssv3546241, nssv3720314, nssv3546235, nssv3546253, nssv3546255, nssv3546245, nssv3546234, nssv3546247, nssv3546250, nssv3546238, nssv3546248, nssv3546249, nssv3546252, nssv3546243, nssv3546251, nssv3546240, nssv3546239, nssv3546236, nssv3546246, nssv3546237, nssv3546242, nssv3546244
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055421
Frequency
Sample Size11257
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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