A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014932



Internal ID18757467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16544771..16931632hg38UCSC Ensembl
Innerchr1:16871266..17258127hg19UCSC Ensembl
Innerchr1:16743853..17130714hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38386862
hg19386862
hg18386862
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv55n100
Supporting Variantsnssv3698844, nssv3477661
Samples
Known GenesCROCC, CROCCP2, ESPNP, LOC729574, MIR3675, MST1L, MST1P2, NBPF1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014932
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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