A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009482



Internal ID18752013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16691023..16949734hg38UCSC Ensembl
Innerchr1:17017518..17276229hg19UCSC Ensembl
Innerchr1:16890105..17148816hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38258712
hg19258712
hg18258712
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3700005
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)nsv1009482
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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