A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111857



Internal ID18940272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226978502..226978746hg38UCSC Ensembl
Outerchr1:227166203..227166447hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv282n106
Supporting Variantsnssv3962482, nssv3964767
SamplesKWS1, KWS2
Known GenesADCK3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111857
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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