A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056536



Internal ID19145755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46131308..46273919hg38UCSC Ensembl
Innerchr17:44208674..44351285hg19UCSC Ensembl
Innerchr17:41564451..41707062hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38142612
hg19142612
hg18142612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3208n100
Supporting Variantsnssv3720996
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)nsv1056536
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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