A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980233



Internal ID18268747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99282324..99284398hg38UCSC Ensembl
Innerchr4:100203481..100205555hg19UCSC Ensembl
Innerchr4:100422504..100424578hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg382075
hg192075
hg182075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2328664, nssv2328667, nssv2328672, nssv2328673, nssv2328666, nssv2328665, nssv2328671, nssv2328669, nssv2328670, nssv2328668
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesADH1A, LOC100507053
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980233
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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