A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997494



Internal ID18810344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16627264..16695774hg38UCSC Ensembl
Innerchr1:16953759..17022269hg19UCSC Ensembl
Innerchr1:16826346..16894856hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3868511
hg1968511
hg1868511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv68n100
Supporting Variantsnssv3472487, nssv3475592
Samples
Known GenesCROCCP2, ESPNP, LOC729574, MIR3675, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997494
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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