A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575146



Internal ID16362555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46040903..46215654hg38UCSC Ensembl
Innerchr17:44118269..44293020hg19UCSC Ensembl
Innerchr17:41474116..41648797hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38174752
hg19174752
hg18174682
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5619n54
Supporting Variantsnssv1149371, nssv1149370
SamplesNINDS_162, NINDS_66
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575146
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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