A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2717771



Internal ID17532639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73158673..73171148hg38UCSC Ensembl
Innerchr7:72572758..72585188hg19UCSC Ensembl
Innerchr7:72210694..72223124hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3812476
hg1912431
hg1812431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971392
Supporting Variants
SamplesHGDP01307
Known GenesGTF2IP1, LOC100093631
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2717771
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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