A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012231



Internal ID18754767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16617106..16767559hg38UCSC Ensembl
Innerchr1:16943601..17094054hg19UCSC Ensembl
Innerchr1:16816188..16966641hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38150454
hg19150454
hg18150454
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv70n100
Supporting Variantsnssv3475047, nssv3479059
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)nsv1012231
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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