A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999758



Internal ID18812608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16708713..16935740hg38UCSC Ensembl
Innerchr1:17035208..17262235hg19UCSC Ensembl
Innerchr1:16907795..17134822hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38227028
hg19227028
hg18227028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n100
Supporting Variantsnssv3700031, nssv3700030, nssv3700029
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)nsv999758
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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