A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008595



Internal ID18751126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16617106..16785052hg38UCSC Ensembl
Innerchr1:16943601..17111547hg19UCSC Ensembl
Innerchr1:16816188..16984134hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38167947
hg19167947
hg18167947
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65n100
Supporting Variantsnssv3478172
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008595
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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