A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002975



Internal ID18745507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16641618..16788205hg38UCSC Ensembl
Innerchr1:16968113..17114700hg19UCSC Ensembl
Innerchr1:16840700..16987287hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38146588
hg19146588
hg18146588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65n100
Supporting Variantsnssv3698904
Samples
Known GenesESPNP, 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)nsv1002975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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