A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001726



Internal ID18744257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16684943..17003642hg38UCSC Ensembl
Innerchr1:17011438..17330137hg19UCSC Ensembl
Innerchr1:16884025..17202724hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38318700
hg19318700
hg18318700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92n100
Supporting Variantsnssv3481075
Samples
Known GenesATP13A2, CROCC, ESPNP, LOC729574, MFAP2, MIR3675, MST1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001726
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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