A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2577295



Internal ID17753483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149520082..149526276hg38UCSC Ensembl
Innerchr1:144186222..144187666hg19UCSC Ensembl
Innerchr1:142897579..142899023hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg386195
hg191445
hg181445
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946690
Supporting Variants
SamplesHGDP00521
Known GenesLOC100288142
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2577295
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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