A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056701



Internal ID18799232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136788..46168702hg38UCSC Ensembl
Innerchr17:44214154..44246068hg19UCSC Ensembl
Innerchr17:41569931..41601845hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3831915
hg1931915
hg1831915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3212n100
Supporting Variantsnssv3550196
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)nsv1056701
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer