A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005723



Internal ID18748254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16684943..16934756hg38UCSC Ensembl
Innerchr1:17011438..17261251hg19UCSC Ensembl
Innerchr1:16884025..17133838hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38249814
hg19249814
hg18249814
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n100
Supporting Variantsnssv3698951
Samples
Known GenesCROCC, ESPNP, LOC729574, 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)nsv1005723
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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