A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997689



Internal ID19157226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72280838..72346757hg38UCSC Ensembl
Innerchr1:72746521..72812440hg19UCSC Ensembl
Innerchr1:72519109..72585028hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3865920
hg1965920
hg1865920
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181n100
Supporting Variantsnssv3478985, nssv3468477, nssv3477851, nssv3468347, nssv3469672
Samples
Known GenesNEGR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997689
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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