A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547714



Internal ID15988437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:143544453..143751464hg38UCSC Ensembl
Innerchr1:149039120..149246114hg19UCSC Ensembl
Innerchr1:147305744..147512738hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38207012
hg19206995
hg18206995
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv541n54
Supporting Variantsnssv723236, nssv723233, nssv723223, nssv723219, nssv723224, nssv723217, nssv723213, nssv723229, nssv723237, nssv723234, nssv723227, nssv723232, nssv723231, nssv723239, nssv723218, nssv723220, nssv723226, nssv723216, nssv723212, nssv723230, nssv723221, nssv723215, nssv723222, nssv723238, nssv723228, nssv723235, nssv723225, nssv723214
Samples
Known GenesLOC101929780, NBPF23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547714
Frequency
Sample Size17421
Observed Gain1
Observed Loss27
Observed Complex0
Frequencyn/a


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