A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2706911



Internal ID17507071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51380385..51394381hg38UCSC Ensembl
Innerchr7:51448082..51462078hg19UCSC Ensembl
Innerchr7:51415576..51429572hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3813997
hg1913997
hg1813997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970477
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2706911
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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