A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063669



Internal ID19152888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46276519hg38UCSC Ensembl
Innerchr17:44214888..44353885hg19UCSC Ensembl
Innerchr17:41570665..41709662hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38138998
hg19138998
hg18138998
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3195n100
Supporting Variantsnssv3556431, nssv3556432, nssv3723943
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063669
Frequency
Sample Size11257
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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