A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv467425



Internal ID15035425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:37033832..37068499hg38UCSC Ensembl
Outerchr7:37023952..37089090hg38UCSC Ensembl
Innerchr7:37073437..37108104hg19UCSC Ensembl
Outerchr7:37063557..37128695hg19UCSC Ensembl
Innerchr7:37039962..37074629hg18UCSC Ensembl
Outerchr7:37030082..37095220hg18UCSC Ensembl
Innerchr7:36814584..36849251hg16UCSC Ensembl
Outerchr7:36804704..36869842hg16UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3865139
hg1965139
hg1865139
hg1665139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele OriginGermline
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437544
Supporting Variants
SamplesNA19142
Known GenesELMO1
MethodSNP array
AnalysisOur algorithm aims to detect deletions that are transmitted from a hemizygous parent to a child. For each trio, every SNP was coded into one of seven categories: (A) Type I mendelian incompatibility (that is, consistent with deletion) involving mother; (B) Type I mendelian incompatibility involving father; (C) Type II mendelian incompatibility (that is, inconsistent with deletion); (D) child homozygous or missing data, both parents homozygous or missing data; (E) child homozygous or missing data, father heterozygous, mother homozygous or missing data; (F) child homozygous or missing data, mother heterozygous, father homozygous or missing data; (G) child heterozygous or both parents heterozygous (see Supplementary Methods for further details). SNPs were assigned to states D-G only if they did not contain mendelian incompatibilities. A run of consecutive SNPs in a particular trio was considered to be consistent with a maternal transmitted deletion if all SNPs were in states A, D or E, or with a paternal deletion if all SNPs were in states B, D or F.
PlatformNot reported
Comments
ReferenceConrad_et_al_2006
Pubmed ID16327808
Accession Number(s)nssv467425
Frequency
Sample Size60
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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