A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578395



Internal ID16365804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2701508..2702401hg38UCSC Ensembl
Innerchr19:2701506..2702399hg19UCSC Ensembl
Innerchr19:2652506..2653399hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38894
hg19894
hg18894
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6221n54
Supporting Variantsnssv892134, nssv892112, nssv892124, nssv892136, nssv892121, nssv892109, nssv892127, nssv892104, nssv892132, nssv892106, nssv892125, nssv892115, nssv892118, nssv892101, nssv892120, nssv892117, nssv892103, nssv892114, nssv892108, nssv892128, nssv892126, nssv892111, nssv892098, nssv892129, nssv892110, nssv892107, nssv892131, nssv892123, nssv892113, nssv892119, nssv892100, nssv892139, nssv892102, nssv892135, nssv892105, nssv892130, nssv892097, nssv892133, nssv892137, nssv892122, nssv892116, nssv892138, nssv892099
Samples
Known GenesGNG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578395
Frequency
Sample Size17421
Observed Gain11
Observed Loss32
Observed Complex0
Frequencyn/a


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