A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011710



Internal ID18754244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16679227..16927031hg38UCSC Ensembl
Innerchr1:17005722..17253526hg19UCSC Ensembl
Innerchr1:16878309..17126113hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38247805
hg19247805
hg18247805
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3698914
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)nsv1011710
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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