A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2581259



Internal ID17842171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149108690..149119826hg38UCSC Ensembl
Innerchr1:144577399..144588546hg19UCSC Ensembl
Innerchr1:143288756..143299903hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3811137
hg1911148
hg1811148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946740
Supporting Variants
SamplesHGDP00998
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2581259
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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